Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

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http://www.wikidata.org/entity/Q28114894
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersHigh frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiencyGenotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohortA novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods.21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids.CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
P2860

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

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http://www.wikidata.org/entity/Q28114894
description
2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2006
@ast
im Dezember 2006 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2006/12/01)
@sk
vědecký článek publikovaný v roce 2006
@cs
wetenschappelijk artikel (gepubliceerd op 2006/12/01)
@nl
наукова стаття, опублікована в грудні 2006
@uk
مقالة علمية (نشرت في ديسمبر 2006)
@ar
name
Four novel missense mutations ...... ation, and structural analysis
@ast
Four novel missense mutations ...... ation, and structural analysis
@en
Four novel missense mutations ...... ation, and structural analysis
@nl
type
label
Four novel missense mutations ...... ation, and structural analysis
@ast
Four novel missense mutations ...... ation, and structural analysis
@en
Four novel missense mutations ...... ation, and structural analysis
@nl
prefLabel
Four novel missense mutations ...... ation, and structural analysis
@ast
Four novel missense mutations ...... ation, and structural analysis
@en
Four novel missense mutations ...... ation, and structural analysis
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Four novel missense mutations ...... ation, and structural analysis
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921